The NCCN guidelines indicate that germline PVs should be analyzed using a multigene panel that includes BRCA 1, BRCA2, CDKN2A, MMR genes associated with LS (MSH2, MLH1, MSH6, and EPCAM), ATM, PALB2, STK11, and TP53. The gene discussed is MRC1; the disease is Leigh syndrome.